title: [Phenotypes in heteroglycanoses and sphingolipidoses (author's transl)].
abstract: Sphingolipidoses and heteroglycanoses are inborn errors of the carbohydrate metabolism. Biochemically and clinically hetero-glycanoses are sub-divided into mucopolysaccharidoses, oligosaccharidoses and mucolipidoses. These disorders of complex carbohydrate metabolism are due to the inborn defect of one or more lysosomal enzymes which in turn cause an intracellular accumulation of not-degraded complex carbohydrates corresponding to a wide pattern of clinical expression and symptomatology ranging from psychomotor retardation without any dysmorphic signs to severe features of a storage disease with dwarfism, peculiar facial appearance, organomegaly and skeletal changes. Investigations of recent years revealed that there is tremendous phenotypic variation even within diseases caused by a deficiency of the same enzyme. On the other hand, clinically indistinguishable phenotypes may be caused by the defect of different enzymes.
mesh_terms: D000293:Adolescent; D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D000795:Fabry Disease / Q000235:genetics; D005260:Female; D005733:Gangliosidoses / Q000235:genetics; D005776:Gaucher Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics; D007966:Leukodystrophy, Metachromatic / Q000235:genetics; D008297:Male; D009081:Mucolipidoses / Q000235:genetics; D009083:Mucopolysaccharidoses / Q000235:genetics; D009542:Niemann-Pick Diseases / Q000235:genetics; D009844:Oligosaccharides / Q000378:metabolism; D010641:Phenotype; D013106:Sphingolipidoses / Q000235:genetics*
chemical_list: D009844:Oligosaccharides
vernacular_title: Phänotyp bei Heteroglykanosen und Sphingolipidosen.